Variant (rsID / SNP)

rs244076

rs244076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,252,915. Clinical significance in the table: Benign.

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Reference-table entries

ADABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:43252915
Cytoband: 20q13.12
HGVS: NM_000022.4(ADA):c.534A>G (p.Val178=)
Allele change: Synonymous_V178V

Associated conditions / phenotypes

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.